PHIP and obesity due to melanocortin 4 receptor deficiency: The phenotype of our two patients is similar to a previously reported patient with a de novo heterozygous nonsense mutation in PHIP, p.Y1149* (c.3447T>G), who has developmental delay, severe intellectual disability (IQ < 50), obesity (weight > +2 SD), and facial dysmorphisms (de Ligt et al. 2012).